Some disturbances of erythrocyte metabolism in galactosaemia.
نویسندگان
چکیده
Galactosaemia is an inborn error of metabolism involving a specific inability to metabolize galactose normally. The affected infants show failure to thrive, enlargement of the liver and spleen, vomiting, jaundice, proteinuria, aminoaciduria, a high blood-galactose level and consequent excretion of large quantities of this sugar in the urine. These disturbances may be avoided or overcome by the early withdrawal of all sources of dietary galactose. Thereafter, the administration of galactose in any form causes this sugar to reappear in blood and urine in significant amounts. If the condition should remain untreated for any length of time death may ensue, whilst the survivors may develop cataract, cirrhosis of the liver and mental retardation. Published reports throw no light on the exact nature of the basic biochemical lesion which is responsible for the syndrome, nor on the possible connexion between the accumulation of galactose in the body and hepatic, renal, cerebral and other disturbances. In an attempt to study these aspects we have sought to use those cells of the patient which are most readily available, the erythrocytes. Since the mammalian erythrocyte is known to metabolize galactose (Katayama, 1926; Feigelson & Conte, 1954; Nossal, 1948) there was ground for the hope that the presence of a biochemical defect in hepatic parenchymal cells might be shared, at any rate to some degree, by the erythrocytes. We were thus led to compare the metabolism of galactosaemic red cells with that of normal cells under the same conditions.
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ورودعنوان ژورنال:
- The Biochemical journal
دوره 62 1 شماره
صفحات -
تاریخ انتشار 1956